Month: September 2017

Researchers have found there are seven types of the most common malignant child brain cancer – paving the way for more precise, “kinder” treatments.

Medulloblastoma affects about 70 to 80 children a year in the UK and requires intensive treatment including surgery, chemotherapy and radiotherapy.

That can leave children with life-altering injuries.

But the breakthrough means targeted treatments could be developed and some of the side-effects avoided.

The finding, reported in Lancet Oncology, has been welcomed by families affected by the condition, which is responsible for a fifth of all child brain cancers.

Jessica Mitchell, whose son, Dylan, was diagnosed with the cancer when he was two and has been left with disabilities, said treatment had essentially not changed much for “20 to 30 years”.

“If there was a treatment out there that would have saved his life but also his quality of life – I would’ve been all over that at the time,” she said.

Dylan was diagnosed with brain and spinal tumours in 2014 after ending up in A&E with a rash, screaming in agony, vomiting and clutching his head.

What followed was life-altering surgery, chemotherapy and radiotherapy.

“We were told he had brain tumours the size of a golf ball in his cerebellum,” Jessica told the BBC. Surgery then confirmed their worst fears – the tumours were malignant.

“Because he was so young they suggested a chemotherapy-only option, so we consented to six months of chemo that was injected straight into his spine.

“We hoped at the end of the six months that we would go off and live life happily ever after.

“Unfortunately it wasn’t to be,” she said.

A couple of months after coming off his chemo, Dylan relapsed really badly.

“His entire spinal column – from top to bottom – was covered in tumours and it was back in his brain as well,” Jessica said.

“We were given an option to let him go home and die. That wasn’t an option for us. So we opted to treat – but we had to treat very aggressively.”

Because Dylan was so young, Jessica was told that the side-effects of treatment would be “life-limiting and life-altering” and she added: “Ultimately it was the only decision so we signed him up there and then.”

Dylan was given radiotherapy and general anaesthetics five days a week.

“He was so sick and so weak that the radiotherapy team wasn’t convinced he was going to make it,” Jessica said.

“Dylan proved them all wrong, thankfully!”

In all, Dylan had four operations, 90 rounds of chemotherapy, 31 sessions of radiotherapy and 66 general anaesthetics.

The treatment has left him with profound disabilities, including brain injury, brain damage and spinal cord injury.

Prof Steve Clifford, who is presenting the research at the Children with Cancer UK’s Scientific Conference on Monday, said that in the future patients might not need to go through such aggressive treatment.

“This new discovery allows us to undertake studies to see how we could use these insights to personalise treatments according to the biological features of each patient’s tumour,” he said.

Cliff O’Gorman, of Children with Cancer UK, said investment in clinical trials was needed “to build on findings like this and make cutting-edge treatment and precision medicine a reality for all young cancer patients in the UK”.

An eye infection caused by a parasitic worm increasingly common in mainland Europe could spread to the UK, pet owners are being warned.

The disease, Thelazia callipaeda or oriental eye worm, is transmitted by a type of fruit-fly that lands on the eyes and deposits infective larvae.

Cats, dogs and people catch it from the flies, which feed on eye secretions.

There have been three recent canine cases reported in the UK, but the animals had been imported from abroad.

One had been brought to the UK from Romania. The other two had recently travelled to mainland Europe with their owners.

All made a full recovery following drug treatment and eye washes to flush out the adult worms.

Britain has the same type of fruit-fly – Phortica variegata – and the concern is these could become infected and then spread the condition to people and animals in the UK, says veterinary expert John Graham-Brown, from Liverpool University, in the BMJ publication Veterinary Record.

Mr Graham-Brown said there was no risk of people catching the infection directly from their pets. But dog owners should be on the lookout for signs of the infection in themselves and their pet if they had recently travelled to places where the disease was endemic.

Sales of a sterilisation device are being halted in all countries bar the US, weeks after the Victoria Derbyshire show reported it could cause problems.

The Essure implant, which is available on the NHS, has left some women in chronic pain, and some have even needed hysterectomies to remove it.

The pharmaceutical company Bayer said the decision to stop sales was being taken for commercial reasons.

The sale of the implants in the EU was temporarily suspended last month.

Bayer has asked hospitals in the UK not to use their existing stocks during this time.

It is a voluntary request and up to individual trusts to decide what to do.

‘Felt like a burden’

The small coil implants, which are made of nickel and polyester (PET) fibres, are used as a sterilisation device to stop eggs reaching the womb.

They are inserted into the fallopian tubes where they are designed to trigger inflammation, causing scar tissue to build up and eventually block the tubes, known as a hysteroscopic sterilisation.

They can cause intense pain, and some women are thought to react badly to the nickel and plastic.

Because of the way the coils attach to the fallopian tubes, the only way to take them out is to remove a woman’s fallopian tubes and often her uterus.

In other cases the device has been found to perforate a fallopian tube and fallen out, embedding itself elsewhere in the body.

Laura Linkson, who was fitted with the Essure device in 2013, told the BBC’s Victoria Derbyshire programme the pain had left her suicidal.

“The device was sold to me as a simple and easy procedure. I was told that I’d be in and out of the doctor’s office in 10 minutes and that there’d be no recovery time.

“I went from being a mum who was doing everything with her children, to a mum that was stuck in bed unable to move without pain, at some points being suicidal.

“I felt like I was a burden on everyone around me,” she added.

Warning on packaging

The US is the biggest market for the product. More than 15,000 women have reported problems to the US Food and Drug Administration, which include “pain”, “allergic reactions” and the coil moving to other parts of the body.

Last year, the FDA ordered Bayer to carry out long-term testing on Essure and put a warning on its packaging.

A spokeswoman for the FDA said it was aware Bayer was no longer marketing Essure outside the US and the company had confirmed it was committed to continuing the testing as ordered.

“The FDA has taken several steps to ensure the ongoing evaluation of Essure’s safety and efficacy, as well as to educate healthcare professionals and women about the potential risks of using the device,” she said.

A statement from Bayer said: “We would like to reassure all patients, especially those with Essure, as well as health professionals, that this decision has been taken for commercial reasons and is not linked to any problems with safety or with the quality of the product.

The blueprint for life – DNA – has been altered in human embryos for the first time in the UK.

The team at the Francis Crick Institute are unravelling the mysteries of the earliest moments of life.

Understanding what happens after a sperm fertilises an egg could lead to ways of improving IVF or explain why some women miscarry.

The embryos were modified shortly after fertilisation and allowed to develop for seven days.

The researchers are exploring one of the most astounding of transformations.

We have all journeyed from a single fertilised egg to a human being – built from myriad different tissues ranging from bone to those needed to read this page.

The first few steps on that journey are as critical as they are poorly understood.

Breakthroughs in manipulating DNA have allowed the team at the Crick to turn off a gene – a genetic instruction – suspected to be of vital importance.

The easiest way of working out how something works is to remove it and see what happens.

So the researchers used the gene-editing tool Crispr-Cas9 to scour the billions of letters of genetic code, find their genetic target and break the DNA to effectively disable it.

They were targeting a gene. You are unlikely to have heard of it, but OCT4 is a superstar in early embryo development.

Its complete role is not understood but it acts like an army general issuing commands to keep development on track.

The researchers used 41 embryos that had been donated by couples who no longer needed them for IVF.

After performing the genetic modification, the team could watch how the embryos developed without OCT4.

Over the course of the first seven days, a healthy, normal embryo goes from one cell to about 200. It also goes through the first steps of organising itself and handing out specialised jobs to different cells.

The embryo forms a hollow sphere called a blastocyst, with some cells destined to go on to form the placenta, some the yolk sac and others, ultimately, us.

But without OCT4 the blastocyst cannot form. It tries – but implodes in on itself.

From the embryo’s perspective it is a disaster but for scientists it has given unprecedented insight.

It is the first time human embryos have been edited to answer questions about fundamental biology.

Dr Kathy Niakan, a group leader at the Crick in London, told the BBC: “When it seemed it was working we were quite excited about the possibility that this would open up.

“This is basic research which is providing us with a foundation of knowledge about early human development.”

By deepening understanding of the earliest moments in life, it could help explain what goes wrong in infertility.

During IVF, of 100 fertilised eggs, fewer than 50 reach the blastocyst stage, 25 implant into the womb and only 13 develop beyond three months.

This study alone, published in the journal Nature, cannot explain what is going wrong or why some women miscarry.

But by interrogating all the genes suspected of playing a role in our inception, it could lead to new advances.

Dr Niakan told the BBC: “If we knew the key genes for an embryo to develop successfully that would, I would hope in the future, lead to improvements in IVF technology and give us really important insights into why some pregnancies fail.”

One option for IVF is to have a better way of testing which embryos are going to be successful.

Or it may be possible to boost embryos during IVF by growing them in a different culture media – a fertiliser for fertilised eggs.

Ethical debate

These experiments have been legal since 2008 in the UK, where it is possible to manipulate such embryos for 14 days as long as they are not implanted.

But while this application of the technology is answering fundamental questions of science, other research groups are trying to remove genes that cause disease.

Human embryos edited to stop disease

That is provoking deep ethical debate.

Dr Sarah Chan, a bioethicist at the University of Edinburgh, told the BBC: “I don’t think this study should raise any ethical concerns.

“It is very clear that the aim of the research was basic science and that there was never any intention to create genetically modified human beings.

“That said if we could one day use gene editing in human embryos for medical purposes, the potential benefits could be huge, but before we took such a step we would want to make sure that we’d had a really robust and wide-ranging public dialogue on all of the ethical issues involved.”

Dr Rob Buckle, the chief science officer at the UK Medical Research Council, said: “Genome editing technologies are having a game-changing effect on our ability to understand the function of critical human genes.

“As genome editing techniques develop it’s vital that this work continues within a robust yet adaptable regulatory framework so that its full potential can be realised in a scientific, ethical and legally rigorous way.”

Antimicrobial resistance a ‘global health emergency’ that ‘will seriously jeopardise progress in modern medicine’, says head of international organisation.

Not enough new antibiotics are being developed to combat the threat of deadly drug-resistant infections, the World Health Organisation (WHO) has warned.

The vast majority of the drugs being developed are modifications to existing kinds of antibiotics, which only provide short-term solutions, the health organisation said in a new report.

Commenting on the findings, the head of the international body described antibiotic resistance as a “global health emergency” that would take medicine back to the period before the Second World War unless new classes of antibiotics were developed as a matter of urgency.

Health experts have previously warned that resistance to antimicrobials could pose a bigger threat to humankind than cancer.

Around 700,000 people die every year as a result of drug-resistant infections including drug-resistant tuberculosis (TB), HIV and malaria.

If no action is taken, drug-resistant infections will kill 10 million people a year by 2050, according to some estimates.

Of 51 new antibiotics and biologicals currently in clinical development to treat the most dangerous antibiotic resistant diseases, WHO said only eight are classed as innovative treatments that will contribute meaningfully towards the pool of drugs.

“Antimicrobial resistance is a global health emergency that will seriously jeopardise progress in modern medicine,” Dr Tedros Adhanom Ghebreyesus, director-general of WHO said.

“There is an urgent need for more investment in research and development for antibiotic-resistant infections including TB, otherwise we will be forced back to a time when people feared common infections and risked their lives from minor surgery.”

The report found very few potential treatment options for the most deadly antibiotic-resistant infections, including drug-resistant tuberculosis, which kills around 250,000 people a year.

There was a “serious lack” of treatments for strains of tuberculosis and other pathogens such as E-coli, which prove particularly deadly to those with weakened immune systems in hospitals or nursing homes.

“Pharmaceutical companies and researchers must urgently focus on new antibiotics against certain types of extremely serious infections that can kill patients in a matter of days because we have no line of defence,” said Dr Suzanne Hill, director of the Department of Essential Medicines at the WHO.

A WHO and Drugs for Neglected Diseases Initiative earlier this month set up the Global Antibiotic Research and Development Partnership to help find groundbreaking new antibiotics.

Germany, South Africa, Switzerland and the United Kingdom were among countries that pledged more than 56 million euros (£50m) towards the work.

Dr Mario Raviglione, director of the WHO Global Tuberculosis Programme, said: “Research for tuberculosis is seriously underfunded, with only two new antibiotics for treatment of drug-resistant tuberculosis having reached the market in over 70 years.

“If we are to end tuberculosis, more than $800m per year is urgently needed to fund research for new antituberculosis medicines.”

But WHO warned that new drugs alone would not be enough to prevent drug-resistant pathogens developing. New guidance for the use of antibiotics on people, animals and agriculture was also needed, according to the international body.